Author

Pascale Saugier-Véber

InsermORCID 0000-0002-8045-6432Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Organism:mouse· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Albert David· 1 shared Alice GoldenbergiD· 1 shared Allan BayatiD· 1 shared Amélie PitoniD· 1 shared Anne‐Marie GuerrotiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antonio VitobelloiD· 1 shared Arie HorowitziD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Albert David

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud, Eric Chater‐Diehl, Benjamin Durand, Marie Vincent, Maria del Mar Muñiz Moreno, Imene Boujelbene, Nathalie Drouot, Loréline Genschik, Élise Schaefer, Mathilde Nizon, Bénédicte Gérard, Marc Joel Abramowicz, Benjamin Cogné, Lucas Bronicki, Lydie Bürglen, , Amélie Piton

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

Genetics in Medicine · Aug 3, 2021Peer-reviewedGenetic & Genomic Medicine

Murine MPDZ-Linked Hydrocephalus is Caused by Hyperpermeability of the Choroid Plexus

Junning Yang, Claire Simonneau, Robert Kilker, Laura Oakley, Matthew D. Byrne, Zuzana Nichtová, Ioana Stefanescu, Fnu Pardeep‐Kumar, Sushil Tripathi, Eric R. Londin, Pascale Saugier-Véber, Belinda B. Willard, Mathew L. Thakur, Stephen Pickup, Hiroshi Ishikawa, , Arie Horowitz

This study identifies MPDZ as a gene linked to hydrocephalus in mice, showing that its loss-of-function causes choroid plexus hyperpermeability and increased cerebrospinal fluid protein concentration.

EMBO Molecular Medicine · Dec 5, 2018Peer-reviewedNeuroscience